المؤلفون: Luc Mertens, Piet Claus, Bart Bijnens, Benedicte Eyskens, George R. Sutherland, Javier Ganame, David Van Laere, Daisy Thijs, Nathalie Goemans, Jan D'hooge, Gunnar Buyse

المصدر: Journal of the American Society of Echocardiography. 21:1049-1054

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Cardiomyopathy, Sensitivity and Specificity, Free wall, Ventricular Dysfunction, Left, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, In patient, Interventricular septum, Longitudinal function, Child, business.industry, Reproducibility of Results, medicine.disease, Radial direction, Echocardiography, Doppler, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Child, Preschool, Cardiology, Early diastolic, Female, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::830feec4c4921e2f60c9c163563b3b9eTest
https://doi.org/10.1016/j.echo.2008.03.001Test

المؤلفون: Gunnar M. Buyse, Diana M. Escolar, Marleen Van den Hauwe, Julaine Florence, Alejandro Jara, J. Mayhew, Erik K Henricson, Nathalie Goemans, Robert T. Leshner

المصدر: European Journal of Paediatric Neurology. 11:337-340

مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Duchenne muscular dystrophy, Pilot Projects, Piperazines, medicine, Humans, Muscle Strength, Muscular dystrophy, Child, business.industry, Pilot trial, General Medicine, medicine.disease, Therapeutic trial, Muscular Dystrophy, Duchenne, Clinical trial, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Histamine H1 Antagonists, Linear Models, Physical therapy, Muscle strength, Female, Neurology (clinical), Oxatomide, business, Follow-Up Studies, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b681bedf208641f0f234c7917d3dfdTest
https://doi.org/10.1016/j.ejpn.2007.02.009Test

المؤلفون: Johan L.K. Van Hove, Tony Reybrouck, Patrice Givron, Ann Meulemans, Sara Seneca, Joél Smet, Nathalie Goemans, Raphael Sciot, Rudy Van Coster

المساهمون: Department of Embryology and Genetics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Adult, Mitochondrial DNA, Biopsy, DNA Mutational Analysis, Molecular Sequence Data, mitochondrial DNA, Mitochondrion, Biology, medicine.disease_cause, tRNA genes, DNA, Mitochondrial, Mitochondrial myopathy, Genetics, medicine, Humans, Point Mutation, Muscle, Skeletal, Genetics (clinical), RNA, Transfer, Asp, Mutation, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Point mutation, mitochondrial myopathy, Mitochondrial Myopathies, exercise intolerance, medicine.disease, Molecular biology, Heteroplasmy, Biochemistry, Transfer RNA, tRNAAsp, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359b88304805283e61a6e85d64c57709Test
https://doi.org/10.1002/ajmg.a.30854Test

المؤلفون: Nathalie Goemans, Martin Lammens, F Lemmens, Jean-Pierre Fryns, G M van de Kamp, René Dom, Philippe Moerman

المصدر: Neuropediatrics. 28:116-119

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Hypokinesia, Neurological disorder, Myopathies, Nemaline, Ultrasonography, Prenatal, Craniofacial Abnormalities, Central nervous system disease, Nemaline myopathy, Pregnancy, Hydrops fetalis, medicine, Humans, Abnormalities, Multiple, Arthrogryposis, Family Health, Fetus, Arthrogryposis multiplex congenita, business.industry, Muscles, Infant, Newborn, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d6ab2c044a0ec39785756474de0512Test
https://doi.org/10.1055/s-2007-973683Test

المؤلفون: Katrijn Klingels, Nathalie Goemans, Gunnar Buyse, Marleen Van den Hauwe, R. Wilson, Annelies van Impe

المصدر: Neuromuscular disorders : NMD. 23(8)

مصطلحات موضوعية: Change over time, Male, medicine.medical_specialty, Pediatrics, Time Factors, Adolescent, medicine.drug_class, Duchenne muscular dystrophy, Population, Adrenal Cortex Hormones, Outcome Assessment, Health Care, medicine, Humans, Longitudinal Studies, education, Child, Genetics (clinical), Retrospective Studies, education.field_of_study, business.industry, Disease progression, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Cohort, Physical therapy, Disease Progression, Exercise Test, Corticosteroid, Female, Neurology (clinical), business, 6 min walking test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7673127a0c7382a4f7e543cf8a4054dTest
https://pubmed.ncbi.nlm.nih.gov/23770101Test

المؤلفون: Fransiska Malfait, Anne De Paepe, Sheela Nampoothiri, Yolanda Gyftodimou, Vanesa López-González, Michael B. Petersen, Nathalie Goemans, Geert Mortier, Sofie Symoens, Eva Holmberg

المصدر: Orphanet journal of rare diseases
Malfait, F, Symoens, S, Goemans, N, Gyftodimou, Y, Holmberg, E, López-González, V, Mortier, G, Nampoothiri, S, Petersen, M B & De Paepe, A 2013, ' Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome ', Orphanet Journal of Rare Diseases, vol. 8, pp. 78 . https://doi.org/10.1186/1750-1172-8-78Test
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES

مصطلحات موضوعية: Male, COL1A2, ADULTHOOD, DOMAIN, Arterial fragility, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), ARTHROCHALASIA TYPE, Fibrillogenesis, Procollagen N-Endopeptidase, Overlap syndrome, General Medicine, Osteogenesis Imperfecta, Phenotype, Osteogenesis imperfecta, END, Female, medicine.symptom, Type I collagen, Procollagen, Adult, medicine.medical_specialty, Genotype, PROCOLLAGEN N-PROTEINASE, Short stature, Collagen Type I, Internal medicine, medicine, Humans, business.industry, Research, Biology and Life Sciences, medicine.disease, GENE, VIIA, Peptide Fragments, Collagen Type I, alpha 1 Chain, Procollagen peptidase, Endocrinology, DEFECT, Ehlers–Danlos syndrome, Mutation, CHAIN, Ehlers-Danlos Syndrome, Human medicine, business

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca3d0d8c88ea8ee888d4486667a3888Test
https://hdl.handle.net/10067/1090000151162165141Test

المؤلفون: R. de Vries, S Stein, R. De Sanctis, Concetta Palermo, Maria Pia Sormani, M. Vigo, Enrico Bertini, Alessandra D'Amico, M. de Visser, Nathalie Goemans, Francesco Muntoni, J. Fagoaga Mata, Marion Main, M. van den Hauwe, Rudolf Korinthenberg, Eugenio Mercuri, Lavinia Fanelli, M. Eagle, Flaviana Bianco, Marika Pane, Mariacristina Scoto, M. Ash, A. Febrer, Elena S. Mazzone, Anna Mayhew, K. Bushby

المساهمون: Neurology

المصدر: Neuromuscular disorders, 23(8), 624-628. Elsevier Limited

مصطلحات موضوعية: Adult, Male, Longitudinal study, Pediatrics, medicine.medical_specialty, SIX MINUTE WALK, Type III Spinal Muscular Atrophy, Adolescent, Adult, Analysis of Variance, Atrophy, Child, Child, Preschool, Exercise Test, Exercise Therapy, methods, Female, Humans, International Cooperation, Longitudinal Studies, Male, Middle Aged, Outcome Assessment (Health Care), Spinal Muscular Atrophies of Childhood, etiology/rehabilitation, Walking, Young Adult, Adolescent, International Cooperation, Walking, Spinal Muscular Atrophies of Childhood, Outcome measures, methods, Outcome Assessment (Health Care), Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Atrophy, 6MWT, Outcome Assessment, Health Care, medicine, Humans, Longitudinal Studies, Young adult, Preschool, Child, Genetics (clinical), Analysis of Variance, business.industry, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Exercise Therapy, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Exercise Test, Physical therapy, Female, Neurology (clinical), Analysis of variance, business, etiology/rehabilitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c28b0885e826eef9c20cfb90fb33370aTest
https://pure.amc.nl/en/publications/six-minute-walk-test-in-type-iii-spinal-muscular-atrophy-a-12month-longitudinal-studyTest(46d0387e-3610-415d-b857-1ee944de2dcd).html

المؤلفون: Hülya Kayserili, Koenraad Devriendt, Jean-Jacques Cassiman, Memnune Yüksel Apak, Eric Legius, Els Schollen, Gert Matthijs, Nathalie Goemans

المصدر: Journal of Medical Genetics. 33:469-474

مصطلحات موضوعية: Male, animal diseases, Centromere, Genes, Recessive, Locus (genetics), Spinal Muscular Atrophies of Childhood, Biology, Prenatal Diagnosis, Genetics, medicine, Humans, Muscular dystrophy, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Homozygote, Infant, Single-strand conformation polymorphism, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Pedigree, nervous system diseases, nervous system, Carrier State, Female, Gene Deletion, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e24b1e84996a74f566eae171816a92cTest
https://doi.org/10.1136/jmg.33.6.469Test

المؤلفون: Nathalie Goemans, Erik Gerlo, Elena Levtchenko, Geert A. Martens, Rita Vos, Jaak Jaeken, Chris Van Geet, Gunnar M. Buyse, Chantal Thys, Michela Di Michele, Kathleen Freson, Christophe Goubau

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 15(1)

مصطلحات موضوعية: Adult, Blood Platelets, Glycerol, Male, medicine.medical_specialty, Adolescent, Aquaporin, Biology, medicine.disease_cause, Aquaporins, Young Adult, Internal medicine, medicine, Humans, Child, Codon, Genetics (clinical), Mutation, Aquaporin 3, Homozygote, Infant, Amino acid substitution, Middle Aged, Transport protein, Pedigree, Protein Transport, Endocrinology, Amino Acid Substitution, Platelet secretion, Child, Preschool, Female, Blood Platelet Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43fae7fcc523bb826d47f30b65bef82fTest
https://pubmed.ncbi.nlm.nih.gov/22899094Test

المؤلفون: Christine Piot, Nathalie Goemans, Marleen Van den Hauwe, R Ganea, Pierre-Yves Jeannet, Kamiar Aminian, Anisoara Paraschiv-Ionescu

المصدر: Journal of child neurology. 27(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Duchenne muscular dystrophy, STRIDE, Walking, Severity of Illness Index, Statistics, Nonparametric, Physical medicine and rehabilitation, Medicine, Humans, Muscular dystrophy, Child, Gait Disorders, Neurologic, business.industry, Spectrum Analysis, Muscle weakness, medicine.disease, Trunk, Muscular Dystrophy, Duchenne, Gait analysis, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), Gait pattern, medicine.symptom, business, Cadence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3e6b76722f0880e9e57c80d778a9f5Test
https://pubmed.ncbi.nlm.nih.gov/21765150Test